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Details for SLC7A9:c.829G>A, p.Val277Met

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
33350791	32859885

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.829G>A

PROTEIN CHANGE

p.Val277Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.004	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006131	6.161e-05	2.892e-05	0.004267	0.004567	0.0005564	7.922e-05	0.0004896	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.667811	Disease causing

DBSNP ID

1 combination linked to SLC7A9:c.829G>A, p.Val277Met

1 disease linked to SLC7A9:c.829G>A, p.Val277Met

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